ABCA1 p.Pro1065Cys
| Predicted by SNAP2: | A: D (63%), C: D (66%), D: D (75%), E: D (85%), F: D (85%), G: D (71%), H: D (80%), I: D (80%), K: D (85%), L: D (80%), M: D (80%), N: D (75%), Q: D (75%), R: D (85%), S: D (63%), T: D (66%), V: D (71%), W: D (91%), Y: D (85%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Genetic variation in the ABCA1 gene, HDL cholester... Atherosclerosis. 2010 Feb;208(2):305-16. Epub 2009 Jun 11. Frikke-Schmidt R
Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.
Atherosclerosis. 2010 Feb;208(2):305-16. Epub 2009 Jun 11., [PMID:19596329]
Abstract [show]
Epidemiological studies consistently demonstrate a strong inverse association between low levels of high-density lipoprotein (HDL) cholesterol and increased risk of ischemic heart disease (IHD). This review focuses on whether both rare and common genetic variation in ABCA1 contributes to plasma levels of HDL cholesterol and to risk of IHD in the general population, and further seeks to understand whether low levels of HDL cholesterol per se are causally related to IHD. Studies of the ABCA1 gene demonstrate a general strategy for detecting functional genetic variants, and show that both common and rare ABCA1 variants contribute to levels of HDL cholesterol and risk of IHD in the general population. The association between ABCA1 variants and risk of IHD appears, however, to be independent of plasma levels of HDL cholesterol. With the recent identification of the largest number of individuals heterozygous for loss-of-function mutations in ABCA1 worldwide, population studies suggests that genetically low HDL cholesterol per se does not predict an increased risk of IHD, and thus questions the causality of isolated low levels of HDL cholesterol for the development of IHD.
Comments [show]
None has been submitted yet.
No. Sentence Comment
2337 4.2. Frequency of mutations in the general population Four of seven non-synonymous mutations (P1065C, G1216V, N1800H, R2144X), ranging in frequency from 0.1 to two per 1000, were associated with low levels of HDL cholesterol in the general population.
X
ABCA1 p.Pro1065Cys 19596329:2337:94
status: NEW